Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly
| Autor: | Yueh-Chun Li, Chih-Yao Chen, Pi-Lin Sung, Chia-Ming Chang, Yung-Yung Cheng, Kuo Chang Wen, Kuan-Chong Chao, Chyi-Chyang Lin, Peng-Hui Wang |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Monosomy Karyotype Trisomy Prenatal diagnosis Corpus callosum lcsh:Gynecology and obstetrics Pregnancy Prenatal Diagnosis Obstetrics and Gynaecology medicine Humans Abnormalities Multiple lcsh:RG1-991 ventriculomegaly Ultrasonography Comparative Genomic Hybridization Polydactyly medicine.diagnostic_test Obstetrics business.industry Obstetrics and Gynecology Abortion Induced polydactyly medicine.disease agenesis of corpus callosum Chromosomes Human Pair 2 Agenesis Amniocentesis Female Chromosome Deletion business Chromosomes Human Pair 16 Chromosomes Human Pair 7 Hydrocephalus microdeletion 16p13.11 Ventriculomegaly |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 51, Iss 2, Pp 260-265 (2012) |
| ISSN: | 1028-4559 |
| Popis: | Objective To present a prenatal diagnosis of microdeletion 16p13.11 with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly. Case Report A 41-year-old well-being Taiwanese, nulligravida woman received amniocentesis at a gestational age of 18 weeks for advanced maternal age. The fetus' karyotype showed 46,XY,der(2)t(2;7)(q36.2;p15.1). Both parents also received cytogenetic examinations and the mother's karyotype revealed 46,XX,t(2;7)(2q36.2;p15.1). High-resolution ultrasound showed the fetus had bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly of the right hand. After the termination of this pregnancy, the whole genome oligonucleotide-base array comparative genomic hybridization (CGH) by using fetal skin cells demonstrated a 8.44-Mb deletion at 2q37.1 (234602276-243041305), a 22.8-Mb duplication (65558-22869338) at 7p15.3, and an additional 1.32-Mb deletion (14968855-16292235) at 16p13.11. Conclusion Array CGH is a useful tool not only to discover the genomic imbalance at the breakpoints as well as to detect unexpectedly complex rearrangements in other chromosomes. Our case also provided evidence that genomic aberration at chromosome 16p13.11 involves in the formation of polydactyly. |
| Databáze: | OpenAIRE |
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